Biochemical Medicine and Metabolic Biology
Regular Article(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients
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Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice
2022, Neuromuscular DisordersCitation Excerpt :This autosomal dominant inherited disease is caused by an abnormal cytosine, thymine and guanine (CTG) segment repeat of the DMPK gene located on chromosome 19 [3]. Generally, a younger age of onset and more severe symptoms are associated with higher CTG repetitions [4]. Using these same criteria, DM1 can be divided into five phenotypes with decreasing severity: congenital, infantile, juvenile, adult and late [5].
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification
2016, Revue NeurologiqueCitation Excerpt :in somatic tissues, with differing rates of CTG expansion between different tissues and different patients. Such an unstable mutation explains in part its wide observed intra- and interindividual variability [9–18]. The unusually wide clinical spectrum poses particular challenges for medical care and the establishment of homogeneous groups of DM1 patients in clinical studies.
Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length
2013, Respiratory Physiology and NeurobiologyMyotonic dystrophy type 1 and PGD: Ovarian stimulation response and correlation analysis between ovarian reserve and genotype
2010, Reproductive BioMedicine OnlineCitation Excerpt :Ovarian reserve was evaluated as a marker of ovarian phenotype rather than ovarian response to ovarian stimulation because the dose of gonadotrophins was decided according to patient history and ovarian parameters and not according to number of CTG repeats. A correlation between genotype and phenotype is controversial but a relationship between genotype and phenotype had already been demonstrated, especially between the size of CTG repeat, the age of DM1 onset and the severity of the disease (Harley et al., 1992; Marchini et al., 2000; Novelli et al., 1993). Concerning other clinical features such as cardiological pathologies or neuromuscular diseases, a relationship between genotype and phenotype is unclear and discordant in different studies (Clarke et al., 2001; Marchini et al., 2000; Melacini et al., 1995; Novelli et al., 1993).
Male hypogonadism and adrenal hypoandrogenism in myotonic dystrophy
2007, Revista Internacional de AndrologiaCoenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonic dystrophy
2001, Brain Research BulletinCitation Excerpt :Current legislation on privacy was followed. The diagnosis of DM was made according to clinical and molecular criteria (expansion of the trinucleotide CTG) [17]. The clinical classification of DM patients was performed following the widely accepted classification of expanded alleles into four groups (E1–E4) [28].